Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000051.4

p.Q1825*

c.5473C>T

Surrounding Variants

1 paper

NM_000051.4

p.Q1825K

c.5473C>A

1 paper

NM_000051.4

p.Q1825E

c.5473C>G

1 paper

NM_000051.4

p.Q1825fs

c.5473_5474fs

2 papers

NM_000051.4

p.Q1825P

c.5474A>C

1 paper

NM_000051.4

p.Q1825R

c.5474A>G

3 papers

NM_000051.4

p.L1824P

c.5471T>C

3 papers

NM_000051.4

p.L1824R

c.5471T>G

4 papers

NM_000051.4

p.L1824I

c.5470C>A

1 paper

NM_000051.4

p.L1824fs

c.5470_5471fs

5 papers

NM_000051.4

p.L1824F

c.5470C>T

3 papers

NM_000051.4

p.L1826V

c.5476T>G

1 paper

NM_000051.4

p.L1827_C1831del5

c.5479_5492del15